Proper eye development depends on expression and mutual regulation of many genes. Anterior segment dysgenesis (ASD) are a highly heterogeneous group of diseases exhibiting all types of Mendelian inheritance, which manifest as combination of congenital abnormalities of the cornea, iris, anterior chamber angle or lens. Screening of genes associated with ASD does not often lead to the identification of the underlying genetic cause implying that there are still novel variants or genes to be discovered. Molecular genetic analysis in 12 probands with ASD using Sanger and whole-exome sequencing were performed. Functional analysis by Exon trapping assay was provided in variants predicted to effect pre-mRNA splicing. Four PAX6 mutations evaluated as pathogenic or likely pathogenic in a heterozygous state were found in four probands c.183C˃G; p.(Tyr61*), c.1032+1G>A, c.1183+1G>T and c.622C>T; p.(Arg208Trp). One proband was found to be a compound heterozygote for c.244A>G; p.(Met82Val) and c.541delG; p.(Glu181Lysfs*26) mutations in FOXE3. In 7 probands, no potentially pathogenic variants were identified. Exon trapping assay confirmed that mutations c.1032+1G>A and c.1183+1G>T have an effect on pre-mRNA splicing of the PAX6 gene. Detailed molecular-genetic analysis in patients with ASD may contribute to...

Examination of the genes DNM2, GARS, MORC2, TRPV4 and SOD1 among Czech patients with hereditary neuropathy axonal type For my PhD thesis I chose to work with patients with axonal form of CMT, because at that time axonal forms were less likely to be clarified by classical methods of molecular genetics. For further examination in patients with unclear cause of the axonal CMT, the genes DNM2, GARS and TRPV4 were selected. The aim was to determine the significance of pathogenic mutations in these genes as the cause of CMT2 in Czech patients. In the course, we identified causal variants in the genes MORC2 and SOD1 with WES. Therefore, we have tested additional CMT2 patients for the presence of these variants. Using Sanger sequencing, I examined a representative set of patients for the DNM2 (37), GARS (10) and TRPV4 (24) genes without finding a causal mutation, then we investigated genes SOD1 (43 patients) and MORC2 (161 patients). The cohort (50 patients) was also subjected to MLPA analysis using a P406-A1 CMT2 duplication and deletion detection kit for genes RAB7A, GARS, HSPB1, HSBP8 and SPTLC1 (kit P406-A1 CMT2). At that time, massively parallel sequencing (MPS) was becoming important. We compared the cost of classical sequencing versus MPS, and accordingly, we decided that the genes DNM2, GARS, MORC2, TRPV4...

The work focuses on molecular genetic testing of patients with Usher syndrome to confirm the diagnosis, to determine the causal cause of the disease and describe new mutations causing Usher syndrome in Czech patients. Usher syndrome is a clinically and genetically heterogeneous disease that is the most common cause of hereditary deafblindness. Based on responsible genes and disease onset is classified into three clinical subtypes. Given the fact that there is currently no specific treatment, there is a need to understand the pathophysiology of this disease and to broaden the spectrum of causal mutations. The theoretical part of the thesis deals with the anatomy of the eye, especially the structure of the retina. Attention is also paid to retinal diseases, such as the progressive loss of vision characteristic for retinitis pigmentosa (RP). RP may occur either as an isolated disorder or also affecting other organs, so-called syndromic RP. Classic syndromic RP includes Usher's syndrome, which the work mainly deals with. The theoretical part of the thesis describes mainly the mechanism of the disease, the functions of individual Usher proteins and the genes that encode these proteins. The haplotype analysis has been previously done for the most common mutations causing Usher's syndrome in Europe Based...

Proper eye development depends on expression and mutual regulation of many genes. Anterior segment dysgenesis (ASD) are a highly heterogeneous group of diseases exhibiting all types of Mendelian inheritance, which manifest as combination of congenital abnormalities of the cornea, iris, anterior chamber angle or lens. Screening of genes associated with ASD does not often lead to the identification of the underlying genetic cause implying that there are still novel variants or genes to be discovered. Molecular genetic analysis in 12 probands with ASD using Sanger and whole-exome sequencing were performed. Functional analysis by Exon trapping assay was provided in variants predicted to effect pre-mRNA splicing. Four PAX6 mutations evaluated as pathogenic or likely pathogenic in a heterozygous state were found in four probands c.183C˃G; p.(Tyr61*), c.1032+1G>A, c.1183+1G>T and c.622C>T; p.(Arg208Trp). One proband was found to be a compound heterozygote for c.244A>G; p.(Met82Val) and c.541delG; p.(Glu181Lysfs*26) mutations in FOXE3. In 7 probands, no potentially pathogenic variants were identified. Exon trapping assay confirmed that mutations c.1032+1G>A and c.1183+1G>T have an effect on pre-mRNA splicing of the PAX6 gene. Detailed molecular-genetic analysis in patients with ASD may contribute to...

Many religious leaders in the early 1900s were afraid of the immoral associations and repercussions of birth control. The Catholic Church and some Protestants never accepted contraception, or accepted it much later, but many mainline Protestants leaders did change their tune dramatically between the years of 1920 and 1931. This investigation seeks to understand how Margaret Sanger was able to use her rhetoric to move her reform from the leftist outskirts and decadent, sexual connotations into the mainstream of family-friendly, morally virtuous, and even conservative religious approval. Securing the approval of religious leaders subsequently provided the impetus for legal and medical acceptance by the late-1930s. Margaret Sanger used conferences, speeches, articles, her magazine (Birth Control Review), and several books to reinforce her message as she pragmatically shifted from the radical left closer to the center and conservatives. She knew the power of the churches to influence their members, and since the United States population had undeniably a Judeo-Christian base, this power could be harnessed in order to achieve success for the birth control movement, among the conservative medical and political communities and the public at large. Despite the clear consensus against birth control by all mainline Christian churches in 1920, including Roman Catholics and Protestants alike, the decade that followed would bring about a great divide that would continue to widen in successive decades. Sanger put forward many arguments in her works, but the ones which ultimately brought along the relatively conservative religious leaders were those that presented birth control not as a gender equity issue, but rather as a morally constructive reform that had the power to save and strengthen marriages; lessen prostitution and promiscuity; protect the health of women; reduce abortions, infanticide, and infant mortality; and improve the quality of life for children and families. Initially, many conservatives and religious leaders associated the birth control movement with radicals, feminists, prostitutes, and promiscuous youth, and feared contraception would lead to immorality and the deterioration of the family. Without the threat of pregnancy, conservatives feared that youth and even married adults would seize the opportunity to have sex outside of marriage. Others worried the decreasing size of families was a sign of growing selfishness and materialism. In response, Sanger promoted the movement as a way for conservatives to stop the rising divorce rates by strengthening and increasing marriages, and to improve the lives of families by humanely increasing the health and standard of living, for women and children especially. In short, she argued that birth control would not lead to deleterious consequences, but would actually improve family moral values and become an effective humanitarian reform. She recognized that both liberals and conservatives were united in hoping to strengthen the family, and so she emphasized those virtues and actively courted those same conservative religious leaders that had previously shunned birth control and the movement. Throughout the 1920s, she emphasized the ways in which birth control could strengthen marriages and improve the quality of life of women and children, and she effectively won over the relatively conservative religious leaders that she needed to bring about the movement’s public, medical, and political progress.

Abstract in German and English / Die Masterarbeit untersucht die 20 meist gespielten Hillsong-Lieder aus dem Jahre 2016 in Deutschland. Untersuchte Aspekte sind die Hauptthemen der Liedtexte, die Sänger- / Adressat-Perspektive, die Einordnung in das gesamtbiblische Narrativ sowie die Funktionen der Lieder innerhalb des Gottesdienstes. Anhand dieser Aspekte wird der Kritik, die an die Lieder gerichtet wird, begegnet. Kritisiert wird unter anderem die theologische Substanzlosigkeit der Lieder, das verzerrte Gottesbild, fehlende Themen wie Leid, Klage, Soziale Gerechtigkeit oder die Fokussierung auf das Individuum anstatt auf Gott. Die Arbeit weist nach, dass die Kritik an mangelndem Inhalt erechtfertigt ist. Die Lieder kommunizieren darüber hinaus ein einseitiges Gottesbild, das Jesus im Fokus hat. Es wird dargestellt, dass die Themen Leid, Klage und Soziale Gerechtigkeit unterrepräsentiert sind. Auf der grammatikalischen Ebene weisen die Lieder einen starken Fokus auf das Individuum auf. Durch die Untersuchung der Funktionen wird jedoch gezeigt, dass die meisten Lieder trotz einer Ich-Perspektive stark gemeinschaftsstiftend sind. Das liegt vor allem an der koinonialen Funktionen sowie der Kombinationen von diakonischer und seelsorgerlicher Funktion mancher Lieder. Neben diesen Funktionen übernehmen die Lieder oft noch die kerygmatische, missionarische und pädagogische Funktion. / The master thesis examines the 20 most played Hillsong songs from 2016 in Germany. Aspects examined are the main themes of the lyrics, the singer-/ addressee perspective, the classification into the biblical narrative as well as the functions of the songs within the worship service. Based on these aspects, the criticism directed at the songs is met. Criticized are, among other things, the theological lack of substance of the songs, the distorted image of God, missing topics like suffering, lamentation, social justice or the focus on the individual instead of God. The work proves that the criticism of lack of content is justified. In addition, the songs communicate a one-sided image of God that strongly focuses on Jesus as an addressee. It shows that the issues of suffering, lamentation and social justice are nderrepresented. On the grammatical level, the songs have a strong focus on the individual. Examining the functions, however, shows that most of the songs, despite a first-person perspective, are strongly community-building. This is mainly due to the koinonial function and the combinations of diaconal and pastoral function of some songs. In addition to these functions, the songs often take on the kerygmatic, missionary and pedagogical function. / Practical Theology / M. Th. (Practical Theology)

Indiana University-Purdue University Indianapolis (IUPUI) / This thesis analyzes the relationship between Flanner House, an African American settlement house, and Planned Parenthood of Central Indiana to determine why Flanner House director Cleo Blackburn would not allow a birth control clinic to be established at the Herman G. Morgan Health Center in 1951. Juxtaposing the scholarship of African Americans and birth control with the historiography of black settlement houses leads to the conclusion that Blackburn’s refusal to add birth control to the health center’s services had little to do with the black Indianapolis community’s opinions on birth control; instead, Flanner House was confined by conservative limitations imposed on it by white funders and organizations. The thesis examines the success of Blackburn and Freeman B. Ransom, Indianapolis’s powerful black leaders, in working within the system of limitations to establish the Morgan Health Center in 1947. Ransom and Blackburn received monetary support from the United Fund, the Indianapolis Foundation, and the U.S. Children’s Bureau, which stationed one of its physicians, Walter H. Maddux, in Indianapolis. The Center also worked as a part of the Indianapolis City Board of Health’s public health program. These organizations and individuals did not support birth control at this time and would greatly influence Blackburn’s decision about providing contraceptives. In 1951, Planned Parenthood approached Blackburn about adding birth control to the services at Morgan Health Center. Blackburn refused, citing the Catholic influence on the Flanner House board. While acknowledging the anti-birth control stance of Indianapolis Catholics, the thesis focuses on other factors that contributed to Blackburn’s decision and argues that the position of Flanner House as a black organization funded by conservative white organizations had more impact than any religious sentiment; birth control would have been a liability for the Morgan Health Center as adding contraceptives could have threatened the funding the Center needed in order to serve the African American community. Finally, the position of Planned Parenthood and Flanner House as subordinate organizations operating within the limitations of Indianapolis society are compared and found to be similar.